Sometimes referred to as Gorlin's disease, basal cell nevus syndrome is an extremely rare genetic condition which affects the skin, eyes, bones, and endocrine system. Its primary effect is basal cell carcinoma when the patient nears puberty, tumors (primarily the brain), and various forms of cystosis such as cysts in the jaw or inner ear. The disease is serious but not life-threatening, and can be treated. Its incidence is about 1 in every 60,000 persons.
The disease is autosomal - only one parent needs to pass on the gene to affect the child. Patients with the disease generally display larger foreheads, a heavy brow ridge, protruding jaw, and generally a wider face than normal. They may suffer from hydrocephalus, epilepsy, brain tumors, scoliosis, and numerous skeletal abnormalities. Because of its debilitating effect on bone growth, spontaneous fractures and growth deformities are common. In some cases, cataracts, blindness, and deafness occur, while in rare cases it can cause severe mental retardation.
The carcinoma exhibits itself primary as pits and growths on the skin, and are generally treatable. However, due to the sensitivity of the rest of the skin and underlying bones, treatment requires extra precautions and care.
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